A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN von Lehmann, K., Seemann, P., Silan, F., Goecke, T.O., Irgang, S., Kjaer, K.W., Kjaergaard, S., Mahoney, M.J., Morlot, S., Reissner, C., Kerr, B., Wilkie, A.O.M., Mundlos, S.

Volltext

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism von Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.

Volltext

Cellular evidence for selfish spermatogonial selection in aged human testes von Maher, G. J., Goriely, A., Wilkie, A. O. M.

Volltext

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery von Furniss, D, Kan, S-h, Taylor, I B, Johnson, D, Critchley, P S, Giele, H P, Wilkie, A O M

Volltext

Ethical review of research into rare genetic disorders von Parker, M, Ashcroft, R, Wilkie, A O M, Kent, A

Volltext

Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism von Collin, B., Taylor, I.B., Wilkie, A.O.M., Moss, C.

Volltext

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 von van den Elzen, M E P, Twigg, S R F, Goos, J A C, Hoogeboom, A J M, van den Ouweland, A M W, Wilkie, A O M, Mathijssen, I M J

Volltext

Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault von Iseki, S, Wilkie, A O, Morriss-Kay, G M

Volltext

Cellular correlates of selfish spermatogonial selection von Maher, G. J., Rajpert‐De Meyts, E., Goriely, A., Wilkie, A. O. M.

Volltext

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease von Schwerd, T, Bryant, R V, Pandey, S, Capitani, M, Meran, L, Cazier, J-B, Jung, J, Mondal, K, Parkes, M, Mathew, C G, Fiedler, K, McCarthy, D J, Sullivan, P B, Rodrigues, A, Travis, S P L, Moore, C, Sambrook, J, Ouwehand, W H, Roberts, D J, Danesh, J, Russell, R K, Wilson, D C, Kelsen, J R, Cornall, R, Denson, L A, Kugathasan, S, Knaus, U G, Serra, E G, Anderson, C A, Duerr, R H, McGovern, D PB, Cho, J, Powrie, F, Li, V SW, Muise, A M, Uhlig, H H

Volltext

A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22 von Feldman, George J., Ward, Deeann E., Lajeunie-Renier, Elisabeth, Saavedra, Dolores, Robin, Nathaniel H., Proud, Virginia, Robb, Laura J., Der Kaloustian, Vazken, Carey, John C., Cohen, M. Michael, Cormier, Valerie, Munnich, Arnold, Zackai, Elaine H., Wilkie, Andrew O. M., Arlen Price, R., Muenke, Maximilian

Volltext

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly von Jehee, FS, Johnson, D, Alonso, LG, Cavalcanti, DP, De Sá Moreira, E, Alberto, FL, Kok, F, Kim, C, Wall, SA, Jabs, EW, Boyadjiev, SA, Wilkie, AOM, Passos-Bueno, MR

Volltext

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance von Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., Wilkie, Andrew O.M.

Volltext

Dissection of contiguous gene effects for deletions around ERF on chromosome 19 von Calpena, Eduardo, McGowan, Simon J., Blanco Kelly, Fiona, Boudry‐Labis, Elise, Dieux‐Coeslier, Anne, Harrison, Rachel, Johnson, Diana, Lachlan, Katherine, Morton, Jenny E. V., Stewart, Helen, Vasudevan, Pradeep, Twigg, Stephen R. F., Wilkie, Andrew O. M.

Volltext

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome von Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Van der Aa, N, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A

Volltext

Craniosynostosis: Genes and Mechanisms von WILKIE, A. O. M

Volltext

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome von Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs

Volltext

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 von Afzal, Ali R., Rajab, Anna, Fenske, Christiane D., Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A., Patton, Michael A., Wilkie, Andrew O.M., Jeffery, Steve

Volltext

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis von Bochukova, Elena G, Soneji, Shamit, Wall, Steven A, Wilkie, Andrew O M

Volltext

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B von Oldridge, Michael, M Fortuna, Ana, Maringa, Monika, Propping, Peter, Mansour, Sahar, Pollitt, Christine, DeChiara, Thomas M., Kimble, Robert B., Valenzuela, David M., Yancopoulos, George D., Wilkie, Andrew O.M.

Volltext